Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.030 GeneticVariation BEFREE Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK2 mutation V617F and that 15 CIMF patients without SM did not carry the KIT mutation D816V. 18165278

2008

dbSNP: rs77375493
rs77375493
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.030 GeneticVariation BEFREE V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). 15920007

2005

dbSNP: rs77375493
rs77375493
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.030 GeneticVariation BEFREE Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. 15860661

2005